Blue Cone Monochromacy (BCM)

Blue Cone Monochromacy(来自ICD-11)
别称:
Blue Cone Monochromatism
Color Blindness, Blue Monocone Monochromatic Type
Achromatopsia Incomplete, X-Linked
X-Linked Incomplete Achromatopsia
Atypical X-Linked Achromatopsia
Cone Dystrophy 5, X-Linked
S Cone Monochromatism
S Cone Monochromacy
Cone Monochromatism
Cbbm
Bcm
Colorblindness, Blue-Mono-Cone-Monochromatic Type
Colorblindness Blue-Mono-Cone-Monochromatic Type
Cone Dystrophy 5 X-Linked
Monochromacy, Blue Cone
Blue-Cone Monochromacy
Cone Dystrophy 5
Cod5
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Blue Cone Monochromacy, also known as blue cone monochromatism, is related to chorioretinal scar and pathologic nystagmus, and has symptoms including photophobia An important gene associated with Blue Cone Monochromacy is OPN1LW (Opsin 1, Long Wave Sensitive), and among its related pathways/superpathways are Sweet Taste Signaling and Visual phototransduction. Affiliated tissues include eye and retina, and related phenotypes are blue cone monochromacy and nystagmus
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参考文献
MALACARDS
XL
XLD
Infant
1-9/100000
18
102
15

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